Canonical Allele Identifier: CA526668628

Gene: PKLR

Linked Data

• dbSNP Id: rs1245151352
• gnomAD v2: 1-155265180-C-T
• gnomAD v3: 1-155295389-C-T
• gnomAD v4: 1-155295389-C-T
• MyVariant Identifiers: chr1:g.155265180C>T (hg19) ; chr1:g.155295389C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155295389C>T , CM000663.2:g.155295389C>T	GRCh38
NC_000001.10:g.155265180C>T , CM000663.1:g.155265180C>T	GRCh37
NC_000001.9:g.153531804C>T	NCBI36
NG_011677.1:g.11046G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342741.6:c.507+48G>A MANE Select	ENSP00000339933.4:n.507+48G>A
ENST00000434082.3:c.315+48G>A	ENSP00000398037.3:n.315+48G>A
ENST00000342741.4:c.507+48G>A	ENSP00000339933.4:n.507+48G>A
ENST00000392414.7:c.414+48G>A	ENSP00000376214.3:n.414+48G>A
ENST00000434082.2:c.412+48G>A	ENSP00000398037.2:n.412+48G>A
NM_000298.5:c.507+48G>A	NP_000289.1:n.507+48G>A
NM_181871.3:c.414+48G>A	NP_870986.1:n.414+48G>A
XM_005245266.3:c.666+48G>A	XP_005245323.1:n.666+48G>A
XM_006711386.2:c.315+48G>A	XP_006711449.1:n.315+48G>A
XM_011509639.1:c.666+48G>A	XP_011507941.1:n.666+48G>A
XM_011509640.1:c.315+48G>A	XP_011507942.1:n.315+48G>A
NM_000298.6:c.507+48G>A MANE Select	NP_000289.1:n.507+48G>A
XM_006711386.4:c.315+48G>A	XP_006711449.1:n.315+48G>A
XM_011509640.3:c.315+48G>A	XP_011507942.1:n.315+48G>A
XM_017001493.1:c.507+48G>A	XP_016856982.1:n.507+48G>A
NM_181871.4:c.414+48G>A	NP_870986.1:n.414+48G>A